Venkateswaran, Sunita

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics

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De Novo Mutations in Moderate or Severe Intellectual Disability

Hamdan, F. F., Srour, M., Capo-Chichi, J.-M., Daoud, H., Nassif, C., Patry, L., Massicotte, C., Ambalavanan, A., Spiegelman, D., Diallo, O., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., et al. (2019) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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